Variant report

Variant	nsv458978
Chromosome Location	chr20:41174693-41230763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr20:41216153-41216346	H1-hESC	embryonic stem cell:	n/a	chr20:41216218-41216232
2	BATF	chr20:41181966-41182424	GM12878	blood:	n/a	n/a
3	BATF	chr20:41192599-41192856	GM12878	blood:	n/a	chr20:41192720-41192731
4	BATF	chr20:41182066-41182418	GM12878	blood:	n/a	n/a
5	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
6	CEBPB	chr20:41185258-41185572	A549	lung:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
7	CEBPB	chr20:41201173-41201616	MCF-7	breast:	n/a	n/a
8	CEBPB	chr20:41185225-41185588	HepG2	liver:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
9	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
10	CEBPB	chr20:41201099-41202020	MCF-7	breast:	n/a	chr20:41201766-41201777 chr20:41201766-41201779
11	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
12	CEBPB	chr20:41185337-41185525	K562	blood:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
13	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
14	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
15	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
16	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
17	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
18	CHD2	chr20:41182204-41182321	GM12878	blood:	n/a	n/a
19	CTCF	chr20:41218660-41218810	HRE	kidney:	n/a	n/a
20	CTCF	chr20:41201800-41201950	WERI-Rb-1	eye:	n/a	chr20:41201931-41201940
21	CTCF	chr20:41218580-41218730	GM12871	blood:	n/a	n/a
22	CTCF	chr20:41201867-41201968	MCF-7	breast:	n/a	chr20:41201931-41201940
23	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
24	CTCF	chr20:41201874-41201950	H1-hESC	embryonic stem cell:	n/a	chr20:41201931-41201940
25	CTCF	chr20:41200920-41201070	MCF-7	breast:	n/a	n/a
26	CTCF	chr20:41178320-41178470	MCF-7	breast:	n/a	n/a
27	CTCF	chr20:41218660-41218810	HEK293	kidney:	n/a	n/a
28	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
29	CTCF	chr20:41205882-41206179	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr20:41203516-41203540	GM20000	blood:	n/a	n/a
31	CTCF	chr20:41195180-41195330	GM12875	blood:	n/a	n/a
32	CTCF	chr20:41229986-41230013	GM10248	blood:	n/a	n/a
33	CTCF	chr20:41205980-41206130	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr20:41198747-41198830	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41178304-41178389	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr20:41198757-41198795	MCF-7	breast:	n/a	n/a
37	CTCF	chr20:41218700-41218850	Caco-2	colon:	n/a	n/a
38	CTCF	chr20:41201861-41201974	MCF-7	breast:	n/a	chr20:41201931-41201940
39	CTCF	chr20:41205876-41206105	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:41205937-41206102	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr20:41201879-41201956	MCF-7	breast:	n/a	chr20:41201931-41201940
43	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
44	CTCF	chr20:41178260-41178410	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr20:41218781-41218842	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F4	chr20:41179878-41180224	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr20:41182153-41182351	GM12878	blood:	n/a	n/a
48	ELF1	chr20:41200950-41201771	MCF-7	breast:	n/a	n/a
49	EP300	chr20:41200784-41202076	MCF-7	breast:	n/a	chr20:41201981-41201994
50	EP300	chr20:41182179-41182325	GM12878	blood:	n/a	chr20:41182277-41182291 chr20:41182227-41182241

No.	Distal block	Cell Line	Cell type
1	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
2	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
3	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
4	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
5	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
6	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
7	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
8	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
9	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
10	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
11	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
12	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
13	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
14	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
15	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
16	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
17	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
18	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
19	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
20	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229892	TF binding region

Extended variants
information (count: 2206 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2206 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2064677	chr20:41174693-41174694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181632133	chr20:41174707-41174708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570815535	chr20:41174717-41174718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552644839	chr20:41174753-41174754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539793029	chr20:41174829-41174830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6072788	chr20:41174871-41174872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112282876	chr20:41174882-41174883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572822758	chr20:41174907-41174908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535076221	chr20:41174926-41174927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148201887	chr20:41174934-41174935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575205768	chr20:41174962-41174963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115753694	chr20:41174966-41174967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564319343	chr20:41174978-41174979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186767907	chr20:41175001-41175002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540566354	chr20:41175029-41175030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372296574	chr20:41175031-41175032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560167364	chr20:41175071-41175072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528509799	chr20:41175117-41175118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552835594	chr20:41175119-41175120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34198393	chr20:41175120-41175121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397864987	chr20:41175129-41175130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141144454	chr20:41175155-41175156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562221097	chr20:41175171-41175172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116142587	chr20:41175195-41175196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550661015	chr20:41175210-41175211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150707506	chr20:41175234-41175235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73102441	chr20:41175260-41175261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192068945	chr20:41175304-41175305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567016686	chr20:41175353-41175354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183200650	chr20:41175354-41175355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570972033	chr20:41175383-41175384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371391713	chr20:41175390-41175391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535438542	chr20:41175437-41175438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369142810	chr20:41175468-41175469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6072789	chr20:41175483-41175484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs35606360	chr20:41175577-41175578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1033643	chr20:41175615-41175616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs112566622	chr20:41175617-41175618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545796474	chr20:41175618-41175619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577941570	chr20:41175632-41175633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189635747	chr20:41175644-41175645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73102446	chr20:41175657-41175658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573813522	chr20:41175673-41175674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6513800	chr20:41175680-41175681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561989776	chr20:41175737-41175738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7271986	chr20:41175778-41175779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7271987	chr20:41175784-41175785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373561355	chr20:41175858-41175859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564212775	chr20:41175912-41175913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74167786	chr20:41175920-41175921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41174200-41178000	Weak transcription	Pancreas	Pancrea
2	chr20:41178200-41178400	Enhancers	Brain Germinal Matrix	brain
3	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
5	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
6	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
7	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
8	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
10	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
11	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:41182400-41182600	Enhancers	Right Atrium	heart
13	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
14	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart
18	chr20:41189800-41190600	Enhancers	Gastric	stomach
19	chr20:41190000-41190200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr20:41190000-41190400	Enhancers	Pancreas	Pancrea
21	chr20:41193800-41194000	Enhancers	Pancreas	Pancrea
22	chr20:41193800-41194600	Enhancers	Fetal Stomach	stomach
23	chr20:41194000-41194400	Enhancers	Fetal Muscle Leg	muscle
24	chr20:41196000-41196800	Enhancers	NHEK	skin
25	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
26	chr20:41201000-41202000	Enhancers	Small Intestine	intestine
27	chr20:41201000-41202200	Enhancers	Duodenum Mucosa	Duodenum
28	chr20:41201000-41202200	Enhancers	Gastric	stomach
29	chr20:41201000-41202200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr20:41202200-41206000	Weak transcription	Gastric	stomach
31	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
35	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
37	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
40	chr20:41206000-41206800	Enhancers	Gastric	stomach
41	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:41206800-41216200	Weak transcription	Gastric	stomach
44	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
45	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr20:41210000-41210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr20:41210400-41210800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr20:41210800-41212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr20:41212800-41213600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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